A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3354240



Internal ID15201221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:64387742..64391734hg38UCSC Ensembl
Innerchr9:64388742..64390736hg38UCSC Ensembl
Outerchr9:64386742..64392740hg38UCSC Ensembl
chr9:43111356..43115354hg19UCSC Ensembl
Innerchr9:43112356..43114354hg19UCSC Ensembl
Outerchr9:43110356..43116354hg19UCSC Ensembl
chr9:43101352..43105350hg18UCSC Ensembl
Innerchr9:43102352..43104350hg18UCSC Ensembl
Outerchr9:43100352..43106350hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg383993
hg193999
hg183999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696830
SamplesNA12878
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3354240
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer